ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA645498776
Gene: IQSEC2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
432902
ClinVar RCV Id:
RCV000498854
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001104595.1:p.Pro1183Leu
CA413142507
NM_001111125.3:c.3548C>T